MANAGEMENT OF ENDOCRINE DISEASE: Paediatric Cushing's disease

Abstract

Cushing's disease (CD) is the commonest form of ACTH-dependent Cushing's syndrome and is a rare clinical diagnosis in paediatric and adolescent patients. CD is caused by an ACTH-secreting pituitary corticotroph adenoma and is associated with significant morbidity in children; therefore, early diagnosis and treatment are critical for optimal therapeutic outcome. This review highlights the key clinical and biochemical features of paediatric CD and appraises current practices in diagnosis and management. A close liaison with adult endocrinology colleagues, particularly, for interpretation of investigations and definition of therapeutic strategy is strongly advised.

Long-term outcomes of children treated for Cushing’s disease: a single center experience

“…Close collaboration with adult colleagues with experience of CD is beneficial for pediatric management [1]. The presenting features may differ in children compared to adults, with growth arrest and rapid weight gain being the main presenting features [1].…”

“…Diagnosis of CD was made on the basis of loss of cortisol circadian rhythm, elevated sleeping midnight serum cortisol >50 nmol/l, detectable plasma ACTH, failure to suppress cortisol to <50 nmol/l during a low-dose dexamethasone suppression test (LDDST) and exaggerated increase of serum cortisol during a human-sequence corticotrophin-releasing hormone (1 μg/kg IV CRH) test [1]. Suppression of cortisol by >50 % during high-dose dexamethasone suppression test (HDDST), also consistent with CD, was a further feature [18].…”

“…Biochemical remission after TSS was defined as serum cortisol <50 nmol/l on at least 3 mornings during the immediate post-operative period [1]. Patients in whom post-operative remission was not achieved (n = 5) had second-line therapy with external pituitary irradiation (RT) [18].…”

“…Cushing’s disease (CD) is defined as hypercortisolism due to excess pituitary ACTH secretion by a corticotroph adenoma accounting for ~75 % of cases of pediatric Cushing’s syndrome [1]. The diagnostic and therapeutic strategies are largely based on experience in the adult CD population, although some differences in presentation and responses to therapy exist [2].…”

“…Differences in management protocols and definitions of remission or ‘cure’ have led to rates of successful treatment reported from 60 to 98 % [1, 8, 10, 11]. Variation is also seen for rates of recurrence after remission, ranging from 6 to 27 % [10, 12, 13].…”